Faculty, Staff and Student Publications

Language

English

Publication Date

1-1-2024

Journal

ePlasty

PMID

40463925

PMCID

PMC12132643

PubMedCentral® Posted Date

12-13-2024

PubMedCentral® Full Text Version

Post-print

Abstract

PIK3CA-related overgrowth spectrum (PROS) is an umbrella term used to unify a heterogenous group of vascular overgrowth disorders by a shared genetic cause. Given that patients with PROS have a known, or likely, gene mutation in the PI3K/AKT/mTOR cascade, we hypothesize they experience a rapid response to inhibitors of this pathway, including sirolimus. In the following case series, we describe 3 patients with PROS and their response to sirolimus therapy. Despite their unique clinical presentations, insight into the genetic origin of their vascular overgrowth allowed for their successful treatment with the same medication.

Keywords

Sirolimus, PIK3CA, PROS, Vascular Anomalies, Klippel-Trenaunay Syndrome

Published Open-Access

yes

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